cone-rod dystrophy
MONDO:0015993Mondo
Findings
No curated finding names cone-rod dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Inherited retinal dystrophies that belong to the group of pigmentary retinopathies.
Definition from the Mondo Disease Ontology (MONDO:0015993), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- NyctalopiaHPOHP:0000662
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- Very frequent (80% to 99% of cases)
- Abnormal full-field electroretinogramHPOHP:0030466
- Frequent (30% to 79% of cases)
- Attenuation of retinal blood vesselsHPOHP:0007843
- Frequent (30% to 79% of cases)
- Central scotomaHPOHP:0000603
- Frequent (30% to 79% of cases)
- Color vision defectHPOHP:0000551
- Frequent (30% to 79% of cases)
- DyschromatopsiaHPOHP:0007641
- Frequent (30% to 79% of cases)
- Optic disc pallorHPOHP:0000543
- Frequent (30% to 79% of cases)
- Progressive visual lossHPOHP:0000529
- Frequent (30% to 79% of cases)
- Retinal atrophyHPOHP:0001105
- Frequent (30% to 79% of cases)
- Spicular pigmentation of the retinaHPOHP:0007737
- Frequent (30% to 79% of cases)
Show the remaining 3
- MetamorphopsiaHPOHP:0012508
- Occasional (5% to 29% of cases)
- NystagmusHPOHP:0000639
- Occasional (5% to 29% of cases)
- Visual impairmentHPOHP:0000505
- Occasional (5% to 29% of cases)
Genes
31 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GUCY2DHGNC:4689
- Definitive · G2P · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- HGNC:40028HGNC:40028
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ABCA4HGNC:34
- Supportive · Orphanet · Autosomal dominant · 2021
- ADAM9HGNC:216
- Supportive · Orphanet · Autosomal dominant · 2021
- ATF6HGNC:791
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (28)
- cone dystrophy 3
- cone-rod dystrophy 1
- cone-rod dystrophy 10
- cone-rod dystrophy 11
- cone-rod dystrophy 12
- cone-rod dystrophy 13
- cone-rod dystrophy 14
- cone-rod dystrophy 15
- cone-rod dystrophy 16
- cone-rod dystrophy 17
- cone-rod dystrophy 18
- cone-rod dystrophy 19
- cone-rod dystrophy 2
- cone-rod dystrophy 20
- cone-rod dystrophy 21
- cone-rod dystrophy 22
- cone-rod dystrophy 24
- cone-rod dystrophy 3
- cone-rod dystrophy 5
- cone-rod dystrophy 6
- cone-rod dystrophy 7
- cone-rod dystrophy 8
- cone-rod dystrophy 9
- Leber congenital amaurosis 4
Other names
1 name
Resolves to: cone-rod dystrophy
- Also called
- CRD